Canonical Allele Identifier: CA340464960

Gene: DHCR24

Linked Data

• ClinVar Variation Id: 1184322
• ClinVar RCV Id: RCV001542322
• dbSNP Id: rs2101578761
• MyVariant Identifiers: chr1:g.55349392C>G (hg19) ; chr1:g.54883719C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54883719C>G , CM000663.2:g.54883719C>G	GRCh38
NC_000001.10:g.55349392C>G , CM000663.1:g.55349392C>G	GRCh37
NC_000001.9:g.55121980C>G	NCBI36
NG_008839.1:g.8530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371269.9:c.286G>C MANE Select	ENSP00000360316.3:p.Gly96Arg
ENST00000436604.2:c.286G>C	ENSP00000416585.2:p.Gly96Arg
ENST00000535035.6:c.286G>C	ENSP00000440191.3:p.Gly96Arg
ENST00000647585.1:n.90G>C
ENST00000647912.1:c.286G>C	ENSP00000497559.1:p.Gly96Arg
ENST00000648182.1:c.163G>C	ENSP00000498045.1:p.Gly55Arg
ENST00000648494.1:n.362G>C
ENST00000648641.1:n.132G>C
ENST00000648712.1:n.144G>C
ENST00000648728.1:c.286G>C	ENSP00000497084.1:p.Gly96Arg
ENST00000649769.1:c.286G>C	ENSP00000498012.1:p.Gly96Arg
ENST00000650362.1:c.19G>C	ENSP00000497612.1:p.Gly7Arg
ENST00000371269.7:c.286G>C	ENSP00000360316.3:p.Gly96Arg
ENST00000535035.5:c.19G>C	ENSP00000440191.2:p.Gly7Arg
NM_014762.3:c.286G>C	NP_055577.1:p.Gly96Arg
NM_014762.4:c.286G>C MANE Select	NP_055577.1:p.Gly96Arg